x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

X-linked mixed deafness with perilymphatic gusher

Disease definition

X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafness affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.

ORPHA:383

  • Synonym(s):
    • Conductive deafness with stapes fixation
    • DFNX2
    • Nance deafness
    • X-linked deafness type 2
    • X-linked mixed conductive and neurosensory deafness
    • X-linked mixed conductive and neurosensory hearing loss
    • X-linked mixed conductive and sensorineural deafness
    • X-linked mixed conductive and sensorineural hearing loss
    • X-linked stapes gusher syndrome
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy
  • ICD-10: H90.8
  • OMIM: 304400
  • UMLS: C1844678
  • MeSH: -
  • GARD: 4504
  • MedDRA: -

Additional information

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.